Introduction
Each year, an estimated 7.9 million babies worldwide are born with birth defects, many of which appear healthy at birth and come from families with no history of the disorder. Many affected babies are not identified until the appearance of severe and often irreversible symptoms later in life.
Detecting a disease at an early stage can enable appropriate and timely medical intervention before more serious and sometimes irreversible health issues are caused.
BGI’s NOVA™ Newborn Genetic Screening Test determines a baby’s risk for 246 genes associated with 112 genetic diseases, including 254 disease subtypes.
SUITABLE FOR:
Parents who want a comprehensive genetic screen for their baby; Babies who have missed out on regular screening; Babies from parents with a family history of inherited disorders or from a population identified as at higher risk for genetic disease
TA TIME:
25 working days
SAMPLE:
Blood spot from heel, peripheral blood (children under 5 years)
TECHNOLOGY:
Target region capture, high-throughput sequencing
Why Choose BGI NOVA™ Newborn Genetic Screening?
- Fast-15 working days to get your genetic report
- Accurate-Targeted region capture based NGS with proprietary database
- Affordable-Lower price for every family
Note: this test is considered a screening test, not a diagnostic test. Before making any treatment decisions, all patients/guardians should discuss their results with their healthcare provider, who can recommend confirmatory, diagnostic testing where appropriate. This testing service has not been cleared or approved by the US FDA and is not available in the USA.
Workflow
STEP 1
Physician orders test
STEP 2
Blood or saliva sample collected
STEP 3
Sample shipped to BGI and analyzed
STEP 4
Results sent to physician
STEP 1
Physician orders test
STEP 2
Blood or saliva sample collected
STEP 3
Sample shipped to BGI and analyzed
STEP 4
Results sent to physician
